Resumo

RAMIREZ-BOTERO, Andrés Felipe et al. Molecular diagnosis approach through the use of whole exome sequencing in limb-girdle muscular dystrophies. rev.fac.med. [online]. 2016, vol.64, n.1, pp.159-164. ISSN 0120-0011.  https://doi.org/10.15446/revfacmed.v64n1.53037.

Background. Limb-girdle muscular dystrophy type 1B has a dominant autosomal inheritance pattern and is caused by a mutation in the LMNA gene. This disease has a major neuromuscular and cardiac compromise; furthermore, it belongs to the limb-girdle muscular dystrophies. Objective. To make a clinical and molecular confirmatory diagnosis in a patient with proximal muscular weakness and cardiac symptoms using whole exome sequencing. Materials and Methods. This is the case of a 57 year old patient with a slowly progressive proximal muscular weakness and cardiac compromise; furthermore, the patient has many relatives with the same clinical history. Whole exome sequencing with Sanger confirmation and bioinformatics analysis was performed on the found mutation. Results. The detection of mutation R377L in the LMNA gen by whole exome sequencing with Sanger confirmation, the bioinformatic analysis of the mutation and the symptoms exhibited by the patient allowed the confirmatory diagnosis of limb-girdle muscular dystrophy type 1b. Conclusion. Due to genetic heterogeneity in the phenotype of limb-girdle muscular dystrophies it is difficult to make a clinical diagnosis. The diagnostic approach is complex and requires classification of the muscular dystrophies according to the pattern of muscular weakness and to identify the disease inheritance pattern. Additionally, due to the multiple genes that can generate similar symptoms in the different muscular dystrophies, the authors recommend the use of whole exome sequencing with a special emphasis on the candidate genes for limb-girdle muscular dystrophies.

Palavras-chave : Genetics; Muscular Dystrophies; Cardiomyopathy; Dilated; Polymorphism; Single Nucleotide; Exome.

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